Associated Papers
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II.
Koczkowska M et al.
Human Genetics, 2023
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
Wimmer K et al.
Human Mutation, 2020
32126153 (PubMed )
Supplement: HUMU-41-1145-s001.xlsx › Suppl._Table_S1
Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults.
Schulte JD et al.
Neuro-oncology Advances, 0
33354667 (PubMed )
Supplement: vdaa142_suppl_supplementary_tables.xlsx › Table_S1_NGS_SNV_indel_data
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